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A case of Raine syndrome presenting with facial dysmorphy and review of literature
BACKGROUND: Raine syndrome (RS) – an extremely rare autosomal recessive genetic disorder, is caused by a biallelic mutation in the FAM20C gene. Some of the most common clinical features include generalized osteosclerosis with a periosteal bone formation, dysmorphic face, and thoracic hypoplasia. Man...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5948820/ https://www.ncbi.nlm.nih.gov/pubmed/29751744 http://dx.doi.org/10.1186/s12881-018-0593-x |